Canonical Allele Identifier: CA2213433859
Community Standard Title: NM_024675.4(PALB2):c.160_163delinsGAAC (p.Glu54=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637898_23637901delinsGTTC , CM000678.2:g.23637898_23637901delinsGTTC GRCh38
NC_000016.9:g.23649219_23649222delinsGTTC , CM000678.1:g.23649219_23649222delinsGTTC GRCh37
NC_000016.8:g.23556720_23556723delinsGTTC NCBI36
NG_007406.1:g.8457_8460delinsGAAC , LRG_308:g.8457_8460delinsGAAC

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.160_163delinsGAAC MANE Select NP_078951.2:p.Glu54=
ENST00000261584.9:c.160_163delinsGAAC MANE Select ENSP00000261584.4:p.Glu54=
NM_024675.3:c.160_163delinsGAAC , LRG_308t1:c.160_163delinsGAAC NP_078951.2:p.Glu54=
ENST00000261584.8:c.160_163delinsGAAC ENSP00000261584.4:p.Glu54=
ENST00000561514.1:c.166_169delinsGAAC ENSP00000460666.1:p.Glu56=
ENST00000561514.2:c.-726_-723delinsGAAC ENSP00000460666.2:n.-726_-723delinsGAAC
ENST00000561514.3:c.166_169delinsGAAC ENSP00000460666.3:p.Glu56=
ENST00000565038.1:c.35_38delinsGAAC
ENST00000565038.2:c.160_163delinsGAAC ENSP00000459882.2:p.Glu54=
ENST00000566069.6:c.160_163delinsGAAC ENSP00000459237.2:p.Glu54=
ENST00000567003.1:n.438_441delinsGAAC
ENST00000568219.5:c.-726_-723delinsGAAC ENSP00000454703.2:n.-726_-723delinsGAAC
ENST00000697374.1:c.-726_-723delinsGAAC ENSP00000513284.1:n.-726_-723delinsGAAC
ENST00000697375.1:n.1507_1510delinsGAAC
ENST00000697376.1:c.-726_-723delinsGAAC ENSP00000513285.1:n.-726_-723delinsGAAC
ENST00000697377.1:c.-726_-723delinsGAAC ENSP00000513286.1:n.-726_-723delinsGAAC
ENST00000697377.2:c.166_169delinsGAAC ENSP00000513286.2:p.Glu56=
ENST00000697378.1:n.680_683delinsGAAC
ENST00000697379.1:c.-726_-723delinsGAAC ENSP00000513287.1:n.-726_-723delinsGAAC
ENST00000697379.2:c.166_169delinsGAAC ENSP00000513287.2:p.Glu56=
ENST00000697382.1:c.-726_-723delinsGAAC ENSP00000513288.1:n.-726_-723delinsGAAC
ENST00000697383.1:c.48+3209_48+3212delinsGAAC ENSP00000513289.1:n.48+3209_48+3212delinsGAAC
ENST00000697384.1:n.314_317delinsGAAC
XM_011545946.1:c.166_169delinsGAAC XP_011544248.1:p.Glu56=
XM_011545946.2:c.166_169delinsGAAC XP_011544248.1:p.Glu56=
XM_011545947.1:c.166_169delinsGAAC XP_011544249.1:p.Glu56=
XM_011545947.2:c.166_169delinsGAAC XP_011544249.1:p.Glu56=
XM_011545948.1:c.-726_-723delinsGAAC XP_011544250.1:n.-726_-723delinsGAAC
XM_011545948.2:c.-726_-723delinsGAAC XP_011544250.1:n.-726_-723delinsGAAC
XM_017023671.1:c.166_169delinsGAAC XP_016879160.1:p.Glu56=
XM_017023672.2:c.160_163delinsGAAC XP_016879161.1:p.Glu54=
XM_017023673.2:c.160_163delinsGAAC XP_016879162.1:p.Glu54=
XR_950851.1:n.956_959delinsGAAC